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Select item 51549671.

Cardiac failure in very long chain acyl-CoA dehydrogenase deficiency requiring extracorporeal membrane oxygenation (ECMO) treatment: A case report and review of the literature

Sharon Katz, Yuval Landau, Ben Pode-Shakked, Itai M. Pessach, Marina Rubinshtein, Yair Anikster, Yishay Salem, Gideon Paret

Mol Genet Metab Rep. 2017 Mar; 10: 5–7. Published online 2016 Dec 8. doi: 10.1016/j.ymgmr.2016.11.008

PMCID:: PMC5154967

Abstract Article PDF–252K

Select item 59539012.

Four Years’ Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers

B. Merinero, P. Alcaide, E. Martín-Hernández, A. Morais, M. T. García-Silva, P. Quijada-Fraile, C. Pedrón-Giner, E. Dulin, R. Yahyaoui, J. M. Egea, A. Belanger-Quintana, J. Blasco-Alonso, M. L. Fernandez Ruano, B. Besga, I. Ferrer-López, F. Leal, M. Ugarte, P. Ruiz-Sala, B. Pérez, C. Pérez-Cerdá

JIMD Rep. 2018; 39: 63–74. Published online 2017 Jul 29. doi: 10.1007/8904_2017_40

PMCID:: PMC5953901

Abstract Article PDF–259K

Select item 59539003.

Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase Deficiency

Annalisa Creanza, Mariella Cotugno, Cristina Mazzaccara, Giulia Frisso, Giancarlo Parenti, Brunella Capaldo

JIMD Rep. 2018; 39: 1–6. Published online 2017 Jul 7. doi: 10.1007/8904_2017_38

PMCID:: PMC5953900

Abstract Article PDF–220K

Select item 58832994.

Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report

Liuh Ling Goh, Yingshan Lee, Ee Shien Tan, James Soon Chuan Lim, Chia Wei Lim, Rinkoo Dalan

BMC Med Genomics. 2018; 11: 37. Published online 2018 Apr 3. doi: 10.1186/s12920-018-0356-8

PMCID:: PMC5883299

Abstract Article PDF–1.0M

Select item 58185315.

Very long-/ and long Chain-3-Hydroxy Acyl CoA Dehydrogenase Deficiency correlates with deregulation of the mitochondrial fusion/fission machinery

Judith Hagenbuchner, Sabine Scholl-Buergi, Daniela Karall, Michael J. Ausserlechner

Sci Rep. 2018; 8: 3254. Published online 2018 Feb 19. doi: 10.1038/s41598-018-21519-2

PMCID:: PMC5818531

Abstract Article PDF–4.2M

Select item 57768436.

Muscle Magnetic Resonance Imaging for the Differentiation of Multiple Acyl-CoA Dehydrogenase Deficiency and Immune-mediated Necrotizing Myopathy

Ya-Wen Zhao, Xiu-Juan Liu, Wei Zhang, Zhao-Xia Wang, Yun Yuan

Chin Med J (Engl) 2018 Jan 20; 131(2): 144–150. doi: 10.4103/0366-6999.222323

PMCID:: PMC5776843

Abstract Article PDF–1.4M

Select item 57333917.

Medium chain acyl-CoA dehydrogenase deficiency in a premature infant

Steven F. Dobrowolski, Lina Ghaloul-Gonzalez, Jerry Vockley

Pediatr Rep. 2017 Nov 21; 9(4): 7045. Published online 2017 Nov 21. doi: 10.4081/pr.2017.7045

PMCID:: PMC5733391

Abstract Article PDF–88K

Select item 55388968.

Morbidity and mortality among exclusively breastfed neonates with medium-chain acyl-CoA dehydrogenase deficiency

Rebecca C. Ahrens-Nicklas, Louise C. Pyle, Can Ficicioglu

Genet Med. Author manuscript; available in PMC 2017 Aug 1.

Published in final edited form as: Genet Med. 2016 Dec; 18(12): 1315–1319. Published online 2016 May 5. doi: 10.1038/gim.2016.49

PMCID:: PMC5538896

Abstract Article PDF–422K

Select item 54190639.

Parental Experiences of Raising a Child With Medium Chain Acyl-CoA Dehydrogenase Deficiency

Hilary Piercy, Katarzyna Machaczek, Parveen Ali, Sufin Yap

Glob Qual Nurs Res. 2017 Jan-Dec; 4: 2333393617707080. Published online 2017 May 3. doi: 10.1177/2333393617707080

PMCID:: PMC5419063

Abstract Article PDF–311K

Select item 538864410.

Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency

Irene De Biase, Krista S. Viau, Aiping Liu, Tatiana Yuzyuk, Lorenzo D. Botto, Marzia Pasquali, Nicola Longo

JIMD Rep. 2017; 31: 63–71. Published online 2016 Apr 28. doi: 10.1007/8904_2016_558

PMCID:: PMC5388644

Abstract Article PDF–457K

Select item 517771011.

Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review

Se Jin An, Sook Za Kim, Gu Hwan Kim, Han Wook Yoo, Han Hyuk Lim

Korean J Pediatr. 2016 Nov; 59(Suppl 1): S45–S48. Published online 2016 Nov 30. doi: 10.3345/kjp.2016.59.11.S45

PMCID:: PMC5177710

Abstract Article PDF–651K

Select item 603186812.

Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency

Xin Fan, Bobo Xie, Jun Zou, Jingsi Luo, Zailong Qin, Alissa M. D'Gama, Jiahai Shi, Shang Yi, Qi Yang, Jin Wang, Shiyu Luo, Shaoke Chen, Pankaj B. Agrawal, Qifei Li, Yiping Shen

Mol Genet Metab Rep. 2018 Sep; 16: 15–19. Published online 2018 Jun 11. doi: 10.1016/j.ymgmr.2018.05.007

PMCID:: PMC6031868

Abstract Article PDF–1.3M

Select item 500638913.

Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin

Sandra C. Van Calcar, Mei W. Baker, Phillip Williams, Susan A. Jones, Blia Xiong, Mai Choua Thao, Sheng Lee, Mai Khou Yang, Greg M. Rice, William Rhead, Jerry Vockley, Gary Hoffman, Maureen S. Durkin

Mol Genet Metab. Author manuscript; available in PMC 2016 Aug 31.

Published in final edited form as: Mol Genet Metab. 2013 Sep-Oct; 110(1-2): 111–115. Published online 2013 Apr 15. doi: 10.1016/j.ymgme.2013.03.021

PMCID:: PMC5006389

Abstract Article PDF–103K

Select item 482367514.

Medium-chain Acyl-CoA dehydrogenase deficiency presenting with neonatal pulmonary haemorrhage

Willem Staels, James D’Haese, Els Sercu, Linda De Meirleir, Johan Colpaert, Luc Cornette

Matern Health Neonatol Perinatol. 2015; 1: 8. Published online 2015 Mar 18. doi: 10.1186/s40748-015-0010-9

PMCID:: PMC4823675

Abstract Article PDF–693K

Select item 479953915.

A Historical Cohort Study on the Efficacy of Glucocorticoids and Riboflavin Among Patients with Late-onset Multiple Acyl-CoA Dehydrogenase Deficiency

Xin-Yi Liu, Zhi-Qiang Wang, Dan-Ni Wang, Min-Ting Lin, Ning Wang

Chin Med J (Engl) 2016 Jan 20; 129(2): 142–146. doi: 10.4103/0366-6999.173438

PMCID:: PMC4799539

Abstract Article PDF–286K

Select item 477230716.

Short chain acyl-CoA dehydrogenase deficiency and short-term high-fat diet perturb mitochondrial energy metabolism and transcriptional control of lipid-handling in liver

Sujoy Ghosh, Claudia Kruger, Shawna Wicks, Jacob Simon, K. Ganesh Kumar, William D. Johnson, Randall L. Mynatt, Robert C. Noland, Brenda K. Richards

Nutr Metab (Lond) 2016; 13: 17. Published online 2016 Mar 1. doi: 10.1186/s12986-016-0075-0

PMCID:: PMC4772307

Abstract Article PDF–2.7M

Select item 475559617.

Altered Energetics of Exercise Explain Risk of Rhabdomyolysis in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency

E. F. Diekman, G. Visser, J. P. J. Schmitz, R. A. J. Nievelstein, M. de Sain-van der Velden, M. Wardrop, W. L. Van der Pol, S. M. Houten, N. A. W. van Riel, T. Takken, J. A. L. Jeneson

PLoS One. 2016; 11(2): e0147818. Published online 2016 Feb 16. doi: 10.1371/journal.pone.0147818

PMCID:: PMC4755596

Abstract Article PDF–1.9M

Select item 475055818.

Rhabdomyolysis in a neonate due to very long chain acyl CoA dehydrogenase deficiency

Jessica Scott Schwoerer, Gena Cooper, Sandra van Calcar

Mol Genet Metab Rep. 2015 Jun; 3: 39–41. Published online 2015 Mar 30. doi: 10.1016/j.ymgmr.2015.03.003

PMCID:: PMC4750558

Abstract Article PDF–179K

Select item 474101519.

The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study

Maria D. Karaceper, Pranesh Chakraborty, Doug Coyle, Kumanan Wilson, Jonathan B. Kronick, Steven Hawken, Christine Davies, Marni Brownell, Linda Dodds, Annette Feigenbaum, Deshayne B. Fell, Scott D. Grosse, Astrid Guttmann, Anne-Marie Laberge, Aizeddin Mhanni, Fiona A. Miller, John J. Mitchell, Meranda Nakhla, Chitra Prasad, Cheryl Rockman-Greenberg, Rebecca Sparkes, Brenda J. Wilson, Beth K. Potter, on behalf of the Canadian Inherited Metabolic Diseases Research Network

Orphanet J Rare Dis. 2016; 11: 12. Published online 2016 Feb 3. doi: 10.1186/s13023-016-0391-5

PMCID:: PMC4741015

Abstract Article PDF–617K

Select item 460847120.

Acquired multiple acyl-CoA dehydrogenase deficiency and marked selenium deficiency causing severe rhabdomyolysis in a horse

Diego E. Gomez, Stephanie J. Valberg, K. Gary Magdesian, Paul E. Hanna, Jeanne Lofstedt

Can Vet J. 2015 Nov; 56(11): 1166–1171.

Correction in:: Can Vet J. 2016 May; 57(5): 468.

PMCID:: PMC4608471

Abstract Article PDF–1.5M

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PMC Articles for MedGen (Select 541378) (200)
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AP-3 complex subunit sigma-2 [Homo sapiens]
AP-3 complex subunit sigma-2 [Homo sapiens]
gi|5031581|ref|NP_005820.1|

Protein
B3GNTL1[gene] (111)
ClinVar
PREDICTED: Rattus norvegicus RPTOR independent companion of MTOR, complex 2 (Ric...
PREDICTED: Rattus norvegicus RPTOR independent companion of MTOR, complex 2 (Rictor), transcript variant X4, mRNA
gi|1958753966|ref|XM_039103528.1|

Nucleotide

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